ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1106+19del

dbSNP: rs374874465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077139 SCV002457203 benign Lethal congenital glycogen storage disease of heart 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503156 SCV002811236 likely benign Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 2021-08-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699866 SCV001923676 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699866 SCV001976254 benign not specified no assertion criteria provided clinical testing

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